Recommended panel testing at Breda Genetics for this condition: Charcot-Marie-Tooth neuropathy (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25,
Spinocerebellar ataxias are a group of clinically and genetically heterogeneous disorders. We list below an update on all genetic subtypes, including the most recently identified ones, based on mode of inheritance (Table 1: autosomal dominant; Table 2: autosomal recessive; Table 3: X-linked). Chromosomal locus, gene, mutational spectrum and testing methods are given. Because of significant
Recommended panel testing at Breda Genetics for this condition: Amyotrophic lateral sclerosis (ALS2, ANG, ANXA11, ATXN2, C9orf72, CHCHD10, CHMP2B, CHGB, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1. TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, VEGFA) Summary Amyotrophic lateral sclerosis (ALS) is a complex multifactorial neurodegenerative disorder